Orphanet: Diagnostik COL2A1 Gen assoziierter Krankheiten Stickler Syndroms Typ 1, spondyloepiphys���re Dysplasie, Kniest Dysplasie u.a.

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Diagnosis of COL2A1 gene-associated diseases (Stickler syndrome type 1, spondyloepiphyseal dysplasia, Kniest dysplasia and others)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 11/08/2009
  • Prnatalmedizin, Gynkologie und Genetik - Standort Nrnberg
  • Medizinisches Versorgungszentrum
  • Bankgasse 3
  • 90402 NRNBERG
  • Director of laboratory : Dr Sigrun VON DER HAAR
  • More information
  • Phone : 49 (0)911 206 1010
  • Additional Phone : -
  • Fax : 49 (0)911 206 1012
  • Website
  • Contact
Last update: August 2009

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (1)

Additional information

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.